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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-15987265-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15987265&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 15987265,
"ref": "C",
"alt": "A",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_001042697.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.201+1G>T",
"hgvs_p": null,
"transcript": "NM_001042697.2",
"protein_id": "NP_001036162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399277.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042697.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.201+1G>T",
"hgvs_p": null,
"transcript": "ENST00000399277.6",
"protein_id": "ENSP00000382218.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042697.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399277.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.201+1G>T",
"hgvs_p": null,
"transcript": "ENST00000472495.5",
"protein_id": "ENSP00000419138.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472495.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "n.*118+1G>T",
"hgvs_p": null,
"transcript": "ENST00000486706.6",
"protein_id": "ENSP00000463327.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000486706.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "n.*118+1G>T",
"hgvs_p": null,
"transcript": "ENST00000490395.5",
"protein_id": "ENSP00000464605.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000490395.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "n.*358+1G>T",
"hgvs_p": null,
"transcript": "ENST00000585208.5",
"protein_id": "ENSP00000464227.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000585208.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.543+1G>T",
"hgvs_p": null,
"transcript": "ENST00000888430.1",
"protein_id": "ENSP00000558489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888430.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.456+1G>T",
"hgvs_p": null,
"transcript": "ENST00000946548.1",
"protein_id": "ENSP00000616607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": null,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946548.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.201+1G>T",
"hgvs_p": null,
"transcript": "NM_001042698.2",
"protein_id": "NP_001036163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042698.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.195+1G>T",
"hgvs_p": null,
"transcript": "ENST00000946547.1",
"protein_id": "ENSP00000616606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": null,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946547.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.192+1G>T",
"hgvs_p": null,
"transcript": "ENST00000888429.1",
"protein_id": "ENSP00000558488.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.201+1G>T",
"hgvs_p": null,
"transcript": "ENST00000888428.1",
"protein_id": "ENSP00000558487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888428.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.90-6132G>T",
"hgvs_p": null,
"transcript": "ENST00000922667.1",
"protein_id": "ENSP00000592726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.156+1G>T",
"hgvs_p": null,
"transcript": "ENST00000486655.5",
"protein_id": "ENSP00000464371.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486655.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.201+1G>T",
"hgvs_p": null,
"transcript": "XM_047435364.1",
"protein_id": "XP_047291320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435364.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.192+1G>T",
"hgvs_p": null,
"transcript": "XM_047435365.1",
"protein_id": "XP_047291321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "c.192+1G>T",
"hgvs_p": null,
"transcript": "XM_047435366.1",
"protein_id": "XP_047291322.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435366.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "n.160+1G>T",
"hgvs_p": null,
"transcript": "ENST00000399280.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000399280.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "n.*118+1G>T",
"hgvs_p": null,
"transcript": "ENST00000460252.5",
"protein_id": "ENSP00000464463.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000460252.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "n.*118+1G>T",
"hgvs_p": null,
"transcript": "ENST00000460315.5",
"protein_id": "ENSP00000462590.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000460315.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "n.*118+1G>T",
"hgvs_p": null,
"transcript": "ENST00000474716.5",
"protein_id": "ENSP00000464500.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000474716.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZSWIM7",
"gene_hgnc_id": 26993,
"hgvs_c": "n.177+1G>T",
"hgvs_p": null,
"transcript": "ENST00000475498.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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{
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"clinvar_disease": "Spermatogenic failure 71",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Spermatogenic failure 71",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}